Revel Score:
ENST00000342992
0.597
ENST00000460472
0.597
ENST00000342175
0.597
ENST00000359218
0.597
ENST00000356127
0.597
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614741A>T , CM000664.2:g.178614741A>T | GRCh38 |
| NC_000002.11:g.179479468A>T , CM000664.1:g.179479468A>T | GRCh37 |
| NC_000002.10:g.179187713A>T | NCBI36 |
| NG_011618.3:g.221062T>A , LRG_391:g.221062T>A | |
| NG_051363.1:g.96915A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41069T>A (TTN) | ENSP00000343764.6:p.Ile13690Asn | |
| ENST00000342175.11:c.22154T>A (TTN) | ENSP00000340554.6:p.Ile7385Asn | |
| ENST00000359218.10:c.21953T>A (TTN) | ENSP00000352154.5:p.Ile7318Asn | |
| ENST00000342175.10:c.22154T>A (TTN) | ENSP00000340554.6:p.Ile7385Asn | |
| ENST00000342992.10:c.41069T>A (TTN) | ENSP00000343764.6:p.Ile13690Asn | |
| ENST00000359218.9:c.21953T>A (TTN) | ENSP00000352154.5:p.Ile7318Asn | |
| ENST00000460472.6:c.21578T>A (TTN) | ENSP00000434586.1:p.Ile7193Asn | |
| ENST00000589042.5:c.48773T>A (TTN) MANE Select | ENSP00000467141.1:p.Ile16258Asn | |
| ENST00000591111.5:c.43850T>A (TTN) | ENSP00000465570.1:p.Ile14617Asn | |
| ENST00000615779.4:c.43850T>A (TTN) | ENSP00000483597.1:p.Ile14617Asn | |
| NM_001256850.1:c.43850T>A (TTN) | NP_001243779.1:p.Ile14617Asn | |
| NM_001267550.2:c.48773T>A (TTN) MANE Select | NP_001254479.2:p.Ile16258Asn | |
| NM_003319.4:c.21578T>A (TTN) | NP_003310.4:p.Ile7193Asn | |
| NM_133378.4:c.41069T>A (TTN) | NP_596869.4:p.Ile13690Asn | |
| NM_133432.3:c.21953T>A (TTN) | NP_597676.3:p.Ile7318Asn | |
| NM_133437.4:c.22154T>A (TTN) | NP_597681.4:p.Ile7385Asn | |
| NR_038271.1:n.1489A>T (TTN-AS1) | ||
| XM_011511729.1:c.47870T>A (TTN) | XP_011510031.1:p.Ile15957Asn | |
| XM_011511730.1:c.21764T>A (TTN) | XP_011510032.1:p.Ile7255Asn | |
| XM_011511731.1:c.21623T>A (TTN) | XP_011510033.1:p.Ile7208Asn | |
| XM_017004819.1:c.47666T>A (TTN) | XP_016860308.1:p.Ile15889Asn | |
| XM_017004820.1:c.43064T>A (TTN) | XP_016860309.1:p.Ile14355Asn | |
| XM_017004821.1:c.43061T>A (TTN) | XP_016860310.1:p.Ile14354Asn | |
| XM_017004822.1:c.40103T>A (TTN) | XP_016860311.1:p.Ile13368Asn | |
| XM_017004823.1:c.21719T>A (TTN) | XP_016860312.1:p.Ile7240Asn | |
| XM_024453094.1:c.43214T>A (TTN) | XP_024308862.1:p.Ile14405Asn | |
| XM_024453095.1:c.43211T>A (TTN) | XP_024308863.1:p.Ile14404Asn | |
| XM_024453096.1:c.42644T>A (TTN) | XP_024308864.1:p.Ile14215Asn | |
| XM_024453097.1:c.39986T>A (TTN) | XP_024308865.1:p.Ile13329Asn | |
| XM_024453098.1:c.39905T>A (TTN) | XP_024308866.1:p.Ile13302Asn | |
| XM_024453099.1:c.21668T>A (TTN) | XP_024308867.1:p.Ile7223Asn | |
| XM_024453100.1:c.11522T>A (TTN) | XP_024308868.1:p.Ile3841Asn |